rs1057517335

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs1057517335(A;G)

Make rs1057517335(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

7529099

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs1057517335
dbSNP (classic)	rs1057517335
ClinGen	rs1057517335
ebi	rs1057517335
HLI	rs1057517335
Exac	rs1057517335
Gnomad	rs1057517335
Varsome	rs1057517335
LitVar	rs1057517335
Map	rs1057517335
PheGenI	rs1057517335
Biobank	rs1057517335
1000 genomes	rs1057517335
hgdp	rs1057517335
ensembl	rs1057517335
geneview	rs1057517335
scholar	rs1057517335
google	rs1057517335
pharmgkb	rs1057517335
gwascentral	rs1057517335
openSNP	rs1057517335
23andMe	rs1057517335
SNPshot	rs1057517335
SNPdbe	rs1057517335
MSV3d	rs1057517335
GWAS Ctlg	rs1057517335

Max Magnitude

0

ClinVar
Risk	rs1057517335(G;G)
Alt	rs1057517335(G;G)
Reference	Rs1057517335(A;A)
Significance	Probable-Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7593985A>G
CLNSRC
CLNACC	RCV000412239.1,